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Cataracts and Microphthalmia Caused by a Gja8 Mutation in Extracellular Loop 2
The mouse semi-dominant Nm2249 mutation displays variable cataracts in heterozygous mice and smaller lenses with severe cataracts in homozygous mice. This mutation is caused by a Gja8(R205G) point mutation in the second extracellular loop of the Cx50 (or α8 connexin) protein. Immunohistological data...
Autores principales: | Xia, Chun-hong, Chang, Bo, DeRosa, Adam M., Cheng, Catherine, White, Thomas W., Gong, Xiaohua |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3530494/ https://www.ncbi.nlm.nih.gov/pubmed/23300808 http://dx.doi.org/10.1371/journal.pone.0052894 |
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